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Friedreich's ataxia

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828: 397: 632: 876: 42: 222:). The condition typically manifests in childhood or adolescence, with initial symptoms including difficulty walking, loss of balance, and poor coordination. As the disease progresses, it can also impact speech, vision, and hearing. Many individuals with Friedreich's ataxia develop scoliosis, diabetes, and hypertrophic cardiomyopathy, a serious heart condition that is a leading cause of mortality in patients. 5585: 2376: 2190: 679:
to help manage spasticity and prevent deformities. Other physical therapy goals include increased transfer and locomotion independence, muscle strengthening, increased physical resilience, "safe fall" strategy, learning to use mobility aids, learning how to reduce the body's energy expenditure, and developing specific breathing patterns. Speech therapy can improve voice quality.
811:. Haplogroup R1b is the most frequently occurring paternal lineage in Western Europe. FRDA and Haplogroup R1b are more common in northern Spain, Ireland, and France, rare in Russia and Scandinavia, and follow a gradient through central and eastern Europe. A population carrying the disease went through a 678:
Physical therapy typically includes intensive motor coordination, balance, and stabilization training to preserve gains. Low-intensity strengthening exercises are incorporated to maintain functional use of the upper and lower extremities. Stretching and muscle relaxation exercises can be prescribed
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as the first treatment for Friedreich's ataxia. This medication works by reducing oxidative stress and inflammation in neurons, which helps improve motor function in some patients. Ongoing research continues to explore potential therapies aimed at increasing frataxin levels, protecting mitochondria,
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FRDA affects Indo-European populations. It is rare in East Asians, sub-Saharan Africans, and Native Americans. FRDA is the most prevalent inherited ataxia, affecting approximately 1 in 40,000 with European descent. Males and females are affected equally. The estimated carrier prevalence is 1:100. A
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The progressive loss of coordination and muscle strength leads to the full-time use of a wheelchair. Most young people diagnosed with FRDA require mobility aids such as a cane, walker, or wheelchair by early 20s. The disease is progressive, with increasing staggering or stumbling gait and frequent
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There are several additional therapies in trial. Patients can enroll in a registry to make clinical trial recruiting easier. The Friedreich's Ataxia Global Patient Registry is the only worldwide registry of Friedreich's ataxia patients to characterize the symptoms and establish the rate of disease
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People who have been living with FRDA for a long time may develop other complications. 36.8% experience decreased visual acuity, which may be progressive and could lead to functional blindness. Hearing loss is present in about 10.9% of cases. Some patients report bladder and bowel symptoms.
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Without frataxin, the energy in the mitochondria falls, and excess iron creates extra ROS, leading to further cell damage. Low frataxin levels lead to insufficient biosynthesis of iron–sulfur clusters that are required for mitochondrial electron transport and assembly of functional
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Miller JL, Rai M, Frigon NL, Pandolfo M, Punnonen J, Spencer JR (September 2017). "Erythropoietin and small molecule agonists of the tissue-protective erythropoietin receptor increase FXN expression in neuronal cells in vitro and in Fxn-deficient KIKO mice in vivo".
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is a 2023 film, based on a true story, directed by Joseph Nenci. Italo is a light-hearted journalist, darkened by a personal drama that distracts him from work. He encounters with Giorgia, a young girl suffering from Friedreich's Ataxia, who will change his life.
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Physicians and patients can reference the clinical management guidelines for Friedreich ataxia. These guidelines are intended to assist qualified healthcare professionals in making informed treatment decisions about the care of individuals with Friedreich ataxia.
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Degeneration of nerve tissue in the spinal cord causes ataxia. The sensory neurons essential for directing muscle movement of the arms and legs through connections with the cerebellum are particularly affected. The disease primarily affects the spinal cord and
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Leonardi L, Aceto MG, Marcotulli C, Arcuria G, Serrao M, Pierelli F, et al. (March 2017). "A wearable proprioceptive stabilizer for rehabilitation of limb and gait ataxia in hereditary cerebellar ataxias: a pilot open-labeled study".
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and addressing the genetic cause of the disease. Although life expectancy may be reduced, particularly due to cardiac complications, advancements in care and treatment have improved outcomes for many individuals with Friedreich's ataxia.
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Physical therapists play a critical role in educating on correct posture, muscle use, and the identification and avoidance of features that aggravate spasticities such as tight clothing, poorly adjusted wheelchairs, pain, and infection.
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The most common side effects include an increase in alanine transaminase and an increase of aspartate aminotransferase, which can be signs of liver damage, headache, nausea, abdominal pain, fatigue, diarrhea and musculoskeletal pain.
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is a rare, inherited, autosomal recessive neurodegenerative disorder that primarily affects the nervous system, causing progressive damage to the spinal cord, peripheral nerves, and cerebellum, leading to impaired muscle coordination
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Structures in the brain are also affected by FRDA, notably the dentate nucleus of the cerebellum. The heart often develops some fibrosis, and over time, develops left-ventricle hypertrophy and dilatation of the left ventricle.
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in the other. A missense point mutation can have milder symptoms. Depending on the point mutation, cells can produce no frataxin, nonfunctional frataxin, or frataxin that is not properly localized to the mitochondria.
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Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, et al. (March 1996). "Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion".
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Alfedi G, Luffarelli R, Condò I, Pedini G, Mannucci L, Massaro DS, et al. (March 2019). "Drug repositioning screening identifies etravirine as a potential therapeutic for friedreich's ataxia".
313:. Scoliosis is present in about 60%. 7% of people with FRDA also have diabetes and having diabetes has an adverse impact on people with FA, especially those that show symptoms when young. 768:
Surgery may correct deformities caused by abnormal muscle tone. Titanium screws and rods inserted in the spine help prevent or slow the progression of scoliosis. Surgery to lengthen the
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Cossée M, Dürr A, Schmitt M, Dahl N, Trouillas P, Allinson P, et al. (February 1999). "Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes".
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screening to increase frataxin levels in peripheral cells. Fratagene Therapeutics is developing a small molecule called RNF126 to inhibit an enzyme which degrades frataxin.
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The disease evolves differently in different people. In general, those diagnosed at a younger age or with longer GAA triplet expansions tend to have more severe symptoms.
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near the repeat. The length of the shorter GAA repeat is correlated with the age of onset and disease severity. The formation of heterochromatin results in reduced
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Symptoms typically start between the ages of 5 and 15, but in late-onset FRDA, they may occur after age 25 years. The symptoms are broad, but consistently involve
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Galea CA, Huq A, Lockhart PJ, Tai G, Corben LA, Yiu EM, et al. (March 2016). "Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia".
2460: 3390: 3360: 1914:"Mammalian iron–sulfur cluster biogenesis: Recent insights into the roles of frataxin, acyl carrier protein and ATPase-mediated transfer to recipient proteins" 521:, the energy molecule necessary to carry out metabolic functions in cells. It also regulates iron transfer in the mitochondria by providing a proper amount of 545:, and signs of other neurological problems are common signs from a physical examination. Diagnostic tests are made to confirm a physical examination such as 3479:"Frataxin deficiency leads to defects in expression of antioxidants and Nrf2 expression in dorsal root ganglia of the Friedreich's ataxia YG8R mouse model" 1050:
has been shown to increase frataxin levels in FRDA cells, mouse models, and humans. DMF showed an 85% increase in frataxin expression over 3 months in
3912:"E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target for Friedreich Ataxia" 951:
There is no cure for Friedreich's ataxia, and treatment development is directed toward slowing, stopping, or reversing disease progression. In 2019,
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Friedreich N (1863). "Ueber degenerative Atrophie der spinalen Hinterstränge" [About degenerative atrophy of the spinal posterior column].
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Friedreich N (1863). "Ueber degenerative Atrophie der spinalen Hinterstränge" [About degenerative atrophy of the spinal posterior column].
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Friedreich N (1863). "Ueber degenerative Atrophie der spinalen Hinterstränge" [About degenerative atrophy of the spinal posterior column].
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There is currently no cure for Friedreich's ataxia, but treatment focuses on symptom management and slowing disease progression. In 2023, the U.S.
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of the spinal cord are affected to a lesser extent than sensory neurons. In peripheral nerves, a loss of large myelinated sensory fibers occurs.
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Text was copied from this source which is copyright European Medicines Agency. Reproduction is authorized provided the source is acknowledged.
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falling. By the third decade, affected people lose the ability to stand or walk without assistance and require a wheelchair for mobility.
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can promote correct posture, support normal joint alignment, stabilize joints during walking, improve range of motion and gait, reduce
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Omaveloxolone was approved for medical use in the United States in February 2023, and in the European Union in February 2024. The US
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of the gene and low levels of frataxin. People with FDRA might have 5-35% of the frataxin protein compared to healthy individuals.
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1990–1996 study of Europeans calculated the incidence rate was 2.8:100,000. The prevalence rate of FRDA in Japan is 1:1,000,000.
2314: 497:. The diameter of the spinal cord is smaller than that of unaffected individuals mainly due to smaller dorsal root ganglia. The 5610: 5245: 5050: 4723: 2482:
Subramony SH, Lynch DL (May 2023). "A Milestone in the Treatment of Ataxias: Approval of Omaveloxolone for Friedreich Ataxia".
1068:. They are small molecules erythropoietin receptor agonists designed to activate the tissue-protective erythropoietin receptor. 777: 5075: 4707: 2666: 2853: 1670: 1118:-mediated delivery of the FXN gene has been shown to increase frataxin expression and prevent DNA damage in human and mouse 5454: 5184: 4913: 4901: 4363: 3330: 3528:"A Phase 2 Study of the Safety, Efficacy, and Pharmacodynamics of RTA 408 in the Treatment of Friedreich's Ataxia (MOXIe)" 4132: 2813:"Demographic and clinical features and rehabilitation outcomes of patients with Friedreich ataxia: A retrospective study" 911: 585: 4079: 1363: 5132: 5065: 4620: 2571: 2066:
Corben LA, Lynch D, Pandolfo M, Schulz JB, Delatycki MB, Clinical Management Guidelines Writing Group (November 2014).
3960:"Jupiter Orphan Therapeutics, Inc. Enters into a Global Licensing Agreement with Murdoch Childrens Research Institute" 2424: 593: 5221: 4835: 4638: 992: 698: 907:, an athlete with FRDA who completes a long-distance bike race in an adaptive "trike" to raise money for research. 702: 971:
progression. The Friedreich's Ataxia App is the only global community app which enables novel forms of research.
5615: 5384: 5274: 5216: 5177: 4954: 5369: 4469: 4445: 4275: 3749:"Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich's Ataxia" 416: 3850: 1966:"Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia" 5437: 5148: 5033: 4949: 4891: 4661: 4440: 5335: 5117: 4491: 3422:"Topical application of the synthetic triterpenoid RTA 408 protects mice from radiation-induced dermatitis" 2565: 2355: 937: 658: 323: 237: 446:
of the mutant FXN gene have 50% lower frataxin levels, but this decrease is not enough to cause symptoms.
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There is some variability in symptom frequency, onset and progression. All individuals with FRDA develop
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Shan Y, Schoenfeld RA, Hayashi G, Napoli E, Akiyama T, Iodi Carstens M, et al. (November 2013).
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Montermini L, Andermann E, Labuda M, Richter A, Pandolfo M, Cavalcanti F, et al. (August 1997).
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Khonsari H, Schneider M, Al-Mahdawi S, Chianea YG, Themis M, Parris C, et al. (December 2016).
2207: 5122: 4896: 4310: 4143: 4042:"CRISPR Therapeutics Receives FARA Grant to Develop Gene Editing Therapies for Friedreich's Ataxia" 848: 816: 749: 550: 3966: 795:
are the leading causes of death, but people with fewer symptoms can live into their 60s or older.
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Indelicato E, Bosch S (2018). "Emerging therapeutics for the treatment of Friedreich's ataxia".
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Lazaropoulos M, Dong Y, Clark E, Greeley NR, Seyer LA, Brigatti KW, et al. (August 2015).
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Shobhika Kalra is an activist with FRDA who helped build over 1000 wheelchair ramps across the
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Enns GM, Kinsman SL, Perlman SL, Spicer KM, Abdenur JE, Cohen BH, et al. (January 2012).
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Aranca TV, Jones TM, Shaw JD, Staffetti JS, Ashizawa T, Kuo SH, et al. (February 2016).
952: 812: 274: 3391:"Shobhika Kalra: Meet the Dubai woman in wheelchair who helped build 1,000 ramps across UAE" 1964:
Sahdeo S, Scott BD, McMackin MZ, Jasoliya M, Brown B, Wulff H, et al. (December 2014).
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Jasoliya M, Sacca F, Sahdeo S, Chedin F, Pane C, Brescia Morra V, et al. (June 2019).
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in the lipids were made more rigid and less susceptible to oxidation by the replacement of
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Benini M, Fortuni S, Condò I, Alfedi G, Malisan F, Toschi N, et al. (February 2017).
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Clark E, Johnson J, Dong YN, Mercado-Ayon, Warren N, Zhai M, et al. (November 2018).
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McCormick A, Farmer J, Perlman S, Delatycki M, Wilmot G, Matthews K, et al. (2017).
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Muscle weakness, ataxia, fatigue, speech difficulties, scoliosis, heart disease, diabetes
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Lynch DR, Farmer J, Hauser L, Blair IA, Wang QQ, Mesaros C, et al. (January 2019).
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of brain and spinal cord are done to rule out other neurological conditions. Finally, a
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Dürr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, et al. (October 1996).
2840: 2793: 2708: 2684:"Feasibility and Acceptability of Lee Silverman Voice Treatment in Progressive Ataxias" 2683: 2619: 2594: 2507: 2452: 2286: 2259: 2143: 2118: 2094: 2067: 2048: 2043: 2016: 1990: 1965: 1938: 1913: 1889: 1862: 1836: 1774: 1726: 1701: 1682: 1631: 1604: 1518:
Dürr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, et al. (October 1996).
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such as a cane, walker, or wheelchair may be required for mobility and independence. A
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Barbeau A, Sadibelouiz M, Roy M, Lemieux B, Bouchard JP, Geoffroy G (November 1984).
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Reetz K, Dogan I, Hohenfeld C, Didszun C, Giunti P, Mariotti C, et al. (2018).
5318: 4929: 4800: 4795: 4580: 4575: 4012: 4004: 3931: 3923: 3876: 3816: 3778: 3768: 3721: 3684: 3592: 3584: 3498: 3490: 3441: 3361:"Man with rare nerve condition climbs Mount Kilimanjaro to raise money for charity" 3238: 3193: 3130: 3091: 3056: 3021: 2959: 2891: 2835: 2827: 2777: 2747: 2703: 2695: 2654: 2614: 2606: 2491: 2436: 2281: 2271: 2138: 2130: 2089: 2079: 2038: 2028: 1985: 1977: 1933: 1925: 1884: 1874: 1818: 1758: 1721: 1713: 1666: 1626: 1616: 1572: 1531: 1490: 1480: 1441: 1401: 1284: 1235: 1227: 1186: 1178: 988: 984: 326: 3851:"STATegics, Inc. Announces a New Grant from Friedreich's Ataxia Research Alliance" 3836: 3725: 3527: 3242: 2811:
Doğan-Aslan M, Büyükvural-Şen S, Nakipoğlu-Yüzer GF, Özgirgin N (September 2018).
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Corben LA, Collins V, Milne S, Farmer J, Musheno A, Lynch D, et al. (2022).
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A 1984 Canadian study traced 40 cases to one common ancestral couple arriving in
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can help reduce the secondary complications of prolonged use of a wheelchair.
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to investigate gene editing as a potential treatment for the disease in 2017.
977: 960: 745: 725: 640: 624: 494: 388:, cardiomyopathy and diabetes are more frequent among the early-onset cases. 357: 294: 241: 177: 2831: 2556: 2033: 4430: 4300: 4283: 4026: 3945: 3888: 3828: 3792: 3698: 3606: 3512: 3455: 2973: 2849: 2789: 2717: 2628: 2503: 2448: 2295: 2152: 2103: 1999: 1947: 1898: 1832: 1770: 1735: 1640: 1577: 1560: 1504: 1453: 1415: 1296: 1249: 1200: 1094: 1022: 854: 741: 498: 440: 361: 286: 3494: 3250: 3207: 2932: 2905: 2649:
Chien H, Barsottini O (10 December 2016). Chien HF, Barsottini OG (eds.).
1678: 1586: 1561:"The Friedreich ataxia GAA triplet repeat: premutation and normal alleles" 1545: 1388:
Parksinson MH, Boesch S, Nachbauer W, Mariotti C, Giunti P (August 2013).
631: 5169: 4389: 4350: 4292: 4211: 4178: 2880:"Clinical and genetic abnormalities in patients with Friedreich's ataxia" 1981: 1879: 1520:"Clinical and genetic abnormalities in patients with Friedreich's ataxia" 1182: 1119: 1109: 1088: 996: 917:
Geraint Williams in an athlete affected by FRDA who is known for scaling
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FRDA was first linked to a GAA repeat expansion on chromosome 9 in 1996.
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Reisman SA, Lee CY, Meyer CJ, Proksch JW, Sonis ST, Ward KW (May 2014).
408:) on chromosome 9, which produces an important protein called frataxin. 4500: 4370: 4200: 4008: 3134: 3095: 3060: 3025: 2344: 2342: 2340: 1485: 1115: 1071: 1041: 861: 753: 737: 692: 644: 562: 428: 337: 278: 262: 172: 41: 4094: 3880: 3542:"FARA – Part 2 of the Phase II MOXIe study (RTA 408 or omaveloxolone)" 3446: 3421: 2964: 2947: 2610: 1762: 1406: 1389: 4610: 4561: 4549: 4532: 4464: 4189: 3588: 3119:"Ueber Ataxie mit besonderer Berücksichtigung der hereditären Formen" 1717: 1231: 1167:"Friedreich's ataxia: Clinical features, pathogenesis and management" 1034: 1002: 840: 836: 729: 542: 530: 482:
FRDA affects the nervous system, heart, pancreas, and other systems.
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for elevated glucose levels and vitamin E levels, and scans such as
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Spinal muscular atrophy with lower extremity predominance (SMALED)
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10.1002/1531-8249(199902)45:2<200::AID-ANA10>3.0.CO;2-U
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polyunsaturated fatty acid which is one of the major components of
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Systemic atrophies primarily affecting the central nervous system
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This article incorporates text from this source, which is in the
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This article incorporates text from this source, which is in the
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and loss of lower limb reflexes, and more than 90% present with
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Brigatti KW, Deutsch EC, Lynch DR, Farmer JM (September 2012).
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Hanson E, Sheldon M, Pacheco B, Alkubeysi M, Raizada V (2019).
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Klockgether T (August 2011). "Update on degenerative ataxias".
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As of May 2021, research continues along the following paths.
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The exact role of frataxin remains unclear. Frataxin assists
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FRDA is an autosomal-recessive disorder that affects a gene (
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or Omav) to target activation of a transcriptional factor,
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The condition is named after the nineteenth century German
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used for the treatment of Friedreich's ataxia. It is taken
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Clinical evaluation, genetic testing, MRI, electromyography
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Improve mitochondrial function and reduce oxidative stress
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The spinal cord becomes thinner and nerve cells lose some
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EPO mimetics are orally available peptide imitations of
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Turkish Journal of Physical Medicine and Rehabilitation
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FRDA has an autosomal-recessive pattern of inheritance.
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synthesis in the electron transport chain to generate
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synthetic homologue of ethyl linoleate, an essential
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Modulation of frataxin controlled metabolic pathways
851:. Further observations appeared in a paper in 1876. 1748: 1362:. Friedreich Ataxia Research Alliance (USA). 2014. 1108:) could be responsible for directing the localized 772:can improve independence and mobility to alleviate 2119:"Novel diagnostic paradigms for Friedreich ataxia" 1360:"Friedreich ataxia clinical management guidelines" 449:In about 4% of cases, the disease is caused by a ( 225:Friedreich's ataxia is caused by mutations in the 847:. Friedreich reported the disease in 1863 at the 5597: 3530:. 1 October 2020 – via clinicaltrials.gov. 955:reported positive results in a phase 2 trial of 149:Family history (autosomal recessive inheritance) 3711: 2648: 2110: 1911: 1598: 1596: 1383: 1381: 780:can be implanted after a severe heart failure. 719: 541:Balance difficulty, loss of proprioception, an 322:Advanced stages of disease are associated with 3577:Annals of Clinical and Translational Neurology 2733: 2481: 1706:Annals of Clinical and Translational Neurology 1427: 1425: 1220:Annals of Clinical and Translational Neurology 995:(NQO1) enzyme to increase the biosynthesis of 914:about supporting Americans with disabilities. 695:, and prevent foot deformities and scoliosis. 5410: 5185: 4255: 3186:The Canadian Journal of Neurological Sciences 760:to keep cardiac abnormalities under control. 724:Cardiac abnormalities can be controlled with 3984: 3952: 3413: 1800: 1798: 1796: 1794: 1792: 1790: 1788: 1593: 1378: 891:is a 2007 independent drama film that stars 748:. Affected people who also have symptomatic 643:, sold under the brand name Skyclarys, is a 229:gene, which result in reduced production of 4974: 4075:Friedreich's Ataxia Global Patient Registry 3214: 2595:"Emerging therapies in Friedreich's ataxia" 1431: 1422: 1025:. Oxidation damage might be reduced if the 857:wrote his medical thesis on FRDA, in 1951. 533:and iron dysmetabolism of the entire cell. 5417: 5403: 5199: 5192: 5178: 4262: 4248: 3182:"Origin of Friedreich's disease in Quebec" 3116: 3081: 3046: 3011: 2871: 2682:Lowit A, Egan A, Hadjivassiliou M (2020). 2251: 2059: 2011: 2009: 1856: 1854: 1852: 1850: 1164: 40: 4016: 3935: 3843: 3782: 3772: 3688: 3596: 3502: 3445: 3197: 2963: 2895: 2839: 2751: 2729: 2727: 2707: 2618: 2285: 2275: 2230: 2142: 2093: 2083: 2042: 2032: 1989: 1959: 1957: 1937: 1888: 1878: 1822: 1785: 1725: 1630: 1620: 1576: 1535: 1494: 1484: 1405: 1270:"Nonataxia symptoms in Friedreich Ataxia" 1239: 1190: 903:is a documentary that tells the story of 603: 5470:Spinocerebellar ataxia 1, 2, 3, 6, 7, 17 2200: 2166: 2164: 2162: 1652: 1650: 1207: 874: 826: 763: 630: 395: 336:Other later stage symptoms can include, 3903: 3664: 3534: 2921:Rinsho Shinkeigaku = Clinical Neurology 2006: 1847: 1263: 1261: 1259: 594:ataxia-oculomotor apraxia types 1 and 2 5598: 5051:Distal hereditary motor neuronopathies 4724:Template:Demyelinating diseases of CNS 3564: 3520: 3271: 2945: 2724: 2675: 2644: 2642: 2640: 2638: 1954: 1863:"Heart disease in Friedreich's ataxia" 1805:Delatycki MB, Bidichandani SI (2019). 1354: 1352: 1350: 1348: 1346: 1344: 1342: 1340: 1033:atoms with the heavy hydrogen isotope 870: 778:implantable cardioverter-defibrillator 16:Rare autosomal-recessive human disease 5398: 5173: 4243: 4039: 3639: 3613: 3401:from the original on 15 December 2018 3371:from the original on 15 December 2018 3341:from the original on 15 December 2018 2536:from the original on 15 December 2023 2159: 1647: 1160: 1158: 1156: 1154: 1152: 1150: 1148: 1146: 1130:Friedreich's Ataxia Research Alliance 1091:might improve mitochondrial function. 744:, sometimes used in conjunction with 268: 167:Symptom management, physical therapy, 5455:Dentatorubral-pallidoluysian atrophy 4902:Idiopathic intracranial hypertension 4291: 3621:"FA Global Patient Registry (FAGPR)" 3470: 2918: 2859:from the original on 30 October 2018 2599:Neurodegenerative Disease Management 2574:from the original on 10 January 2024 2463:from the original on 9 December 2023 1905: 1602: 1366:from the original on 20 October 2018 1325:from the original on 23 January 2019 1256: 1059:Frataxin replacements or stabilizers 708:As progression of ataxia continues, 375: 189:Progressive; reduced life expectancy 3799: 2884:The New England Journal of Medicine 2635: 2586: 2422: 2400:(Press release). 28 February 2023. 2178:from the original on 26 August 2017 1918:Current Opinion in Chemical Biology 1912:Maio N, Jain A, Rouault TA (2020). 1524:The New England Journal of Medicine 1511: 1460: 1337: 967:. Nrf2 is decreased in FRDA cells. 932:fully wheelchair-friendly by 2020. 912:2016 Democratic National Convention 13: 5133:Infantile progressive bulbar palsy 3625:FA Global Patient Registry (FAGPR) 3483:Antioxidants & Redox Signaling 2653:. Springer, Cham. pp. 83–95. 2315:"Skyclarys- omaveloxolone capsule" 2218:from the original on 31 March 2019 1311: 1143: 983:Vatiquinone is being developed by 477: 380:Non-neurological symptoms such as 205:Often due to cardiac complications 14: 5642: 4836:Template:Cerebrovascular diseases 4639:Frontotemporal lobar degeneration 4068: 3677:Molecular Genetics and Metabolism 3311:from the original on 16 June 2015 2651:Movement Disorders Rehabilitation 2404:from the original on 1 March 2023 2364:from the original on 1 March 2023 2264:Orphanet Journal of Rare Diseases 2072:Orphanet Journal of Rare Diseases 1083:Increase frataxin gene expression 993:NAD(P)H dehydrogenase (quinone 1) 807:FRDA follows the same pattern as 699:Functional electrical stimulation 669: 586:Charcot-Marie-Tooth types 1 and 2 316: 265:and loss of lower limb reflexes. 5631:Diseases named after discoverers 5583: 4856:For more detailed coverage, see 4834:For more detailed coverage, see 4805:For more detailed coverage, see 4771:For more detailed coverage, see 4722:For more detailed coverage, see 3821:10.1016/j.neuropharm.2017.05.011 2374: 2325:from the original on 1 July 2023 2188: 2172:"Friedreich's Ataxia Fact Sheet" 705:devices may alleviate symptoms. 703:transcutaneous nerve stimulation 623:This section is an excerpt from 617: 35:Spinocerebellar ataxia, FRDA, FA 5275:Mitochondrial encephalomyopathy 4033: 3860: 3740: 3705: 3383: 3353: 3323: 3291: 3265: 3173: 3149: 3110: 3075: 3040: 3005: 2988: 2939: 2912: 2804: 2760: 2557:New Drug Therapy Approvals 2023 2425:"Omaveloxolone: First Approval" 2386: 2021:Journal of Biological Chemistry 1552: 798: 612: 417:trinucleotide repeat expansions 5621:Trinucleotide repeat disorders 3714:Expert Opinion on Orphan Drugs 3123:Arch Pathol Anat Phys Klin Med 3084:Arch Pathol Anat Phys Klin Med 3049:Arch Pathol Anat Phys Klin Med 3014:Arch Pathol Anat Phys Klin Med 1319:"Friedreich Ataxia Fact Sheet" 584:Other diagnoses might include 1: 5611:Autosomal recessive disorders 5149:Amyotrophic lateral sclerosis 5034:Hereditary spastic paraplegia 4892:Normal pressure hydrocephalus 3726:10.1080/21678707.2018.1409109 3243:10.1126/science.271.5254.1423 2734:Ojoga F, Marinescu S (2013). 1136: 791:Congestive heart failure and 62:/ˈfriːdraɪks əˈtæksiə/. 5118:Progressive muscular atrophy 3928:10.1016/j.celrep.2017.01.079 3774:10.1371/journal.pone.0217776 2919:Kita K (December 1993). "". 2566:Food and Drug Administration 2356:Food and Drug Administration 2208:"Friedreich ataxia NIH page" 1446:10.1097/WCO.0b013e32834875ba 1434:Current Opinion in Neurology 1289:10.1212/WNL.0000000000006121 895:as a young woman with FRDA. 879:Kyle Bryant training on his 783: 720:Managing Cardiac Involvement 659:Food and Drug Administration 536: 411:In 96% of cases, the mutant 238:Food and Drug Administration 7: 4628:Primary progressive aphasia 4080:NIH's FRDA information page 4040:Melão A (19 October 2017). 3690:10.1016/j.ymgme.2011.10.009 2897:10.1056/NEJM199610173351601 1867:World Journal of Cardiology 1537:10.1056/nejm199610173351601 1027:polyunsaturated fatty acids 946: 921:in an adaptive wheelchair. 910:Dynah Haubert spoke at the 661:(FDA) considers it to be a 508: 465:, with an expansion in one 391: 307:hypertrophic cardiomyopathy 248: 197:1 in 50,000 (United States) 10: 5647: 5447:Polyglutamine (PolyQ), CAG 4950:Hashimoto's encephalopathy 4656:Posterior cortical atrophy 4477:Striatonigral degeneration 4328:Cavernous sinus thrombosis 3272:Holden S (13 March 2009). 2700:10.1007/s12311-020-01153-3 2496:10.1007/s12311-023-01568-8 2441:10.1007/s40265-023-01874-9 2398:Reata Pharmaceuticals Inc. 2277:10.1186/s13023-022-02568-3 2123:Journal of Child Neurology 1930:10.1016/j.cbpa.2019.11.014 1128:received a grant from the 1112:silencing of the FXN gene. 822: 682: 622: 352:and loss of coordination ( 213:Friedreich's ataxia (FRDA) 5562:Spinocerebellar ataxia 10 5553: 5544:Myotonic dystrophy type 2 5535: 5522:Spinocerebellar ataxia 12 5508:Myotonic dystrophy type 1 5483: 5445: 5436: 5426:Non-Mendelian inheritance 5380: 5327: 5301: 5259: 5230: 5207: 5056:Spinal muscular atrophies 5024:Primary lateral sclerosis 5006: 4983: 4967: 4922: 4882:Intracranial hypertension 4872: 4844: 4815: 4781: 4743: 4732: 4698: 4676: 4662:Creutzfeldt–Jakob disease 4601: 4411: 4402: 4388: 4348: 4282: 4169: 4088: 3199:10.1017/S0317167100034971 2952:Journal of Neurochemistry 2782:10.1007/s10072-016-2800-x 2753:10.12680/balneo.2013.1044 2659:10.1007/978-3-319-46062-8 2532:(EMA). 14 December 2023. 2530:European Medicines Agency 2085:10.1186/s13023-014-0184-7 1824:10.1016/j.nbd.2019.104606 1622:10.1186/s40673-017-0062-x 1394:Journal of Neurochemistry 1165:Cook A, Giunti P (2017). 819:during the last ice age. 663:first-in-class medication 581:is conducted to confirm. 431:changes and formation of 201: 193: 183: 171: 163: 153: 143: 131: 123: 115: 95: 85: 69: 55: 48: 39: 31: 26: 5515:Spinocerebellar ataxia 8 5370:Mohr–Tranebjærg syndrome 5123:Progressive bulbar palsy 4914:Intracranial hypotension 4897:Choroid plexus papilloma 4311:Herpesviral encephalitis 4046:Friedreich's Ataxia News 2946:Vankan P (August 2013). 2570:(Report). January 2024. 2135:10.1177/0883073812448440 1970:Human Molecular Genetics 1609:Cerebellum & Ataxias 1565:Human Molecular Genetics 1400:(Supplement 1): 103–17. 1171:British Medical Bulletin 928:in 2018 to try to make 849:University of Heidelberg 817:Franco-Cantabrian region 750:congestive heart failure 551:nerve conduction studies 427:. This expansion causes 366:proprioceptive sensation 287:enlargement of the heart 119:Childhood or adolescence 5342:Kjer's optic neuropathy 5209:Carbohydrate metabolism 4635:Frontotemporal dementia 4321:Encephalitis lethargica 4206:Friedreich's ataxia 3162:12 January 2017 at the 2832:10.5606/tftrd.2018.2213 2740:Balneo Research Journal 2034:10.1074/jbc.P113.525857 1811:Neurobiology of Disease 523:reactive oxygen species 5616:Mitochondrial diseases 5474:Machado-Joseph disease 5385:mitochondrial proteins 5201:Mitochondrial diseases 4940:Hepatic encephalopathy 3168:London Review of Books 3157:"Where Life Is Seized" 883: 832: 793:abnormal heart rhythms 635: 604:Management of Symptoms 519:adenosine triphosphate 415:gene has 90–1,300 GAA 401: 127:Long-term, progressive 4998:Ataxia–telangiectasia 4955:Static encephalopathy 4678:Mitochondrial disease 4516:Spasmodic torticollis 4426:Basal ganglia disease 3495:10.1089/ars.2012.4537 3117:Friedreich N (1876). 2770:Neurological Sciences 953:Reata Pharmaceuticals 938:Butterflies Still Fly 878: 830: 813:population bottleneck 764:Surgical Intervention 634: 399: 275:neurological symptoms 5460:Huntington's disease 4945:Toxic encephalopathy 4651:Lewy bodies dementia 3367:. 25 November 2018. 2360:. 28 February 2023. 1880:10.4330/wjc.v11.i1.1 1578:10.1093/hmg/6.8.1261 926:United Arab Emirates 590:vitamin E deficiency 5501:Friedreich's ataxia 4993:Friedreich's ataxia 4376:Meningoencephalitis 4316:Limbic encephalitis 3765:2019PLoSO..1417776J 3438:2014RadR..181..512R 3397:. 30 October 2018. 3235:1996Sci...271.1423C 2996:Nicolaus Friedreich 2423:Lee A (June 2023). 2027:(52): 36787. 2013. 1751:Annals of Neurology 1659:Annals of Neurology 1126:CRISPR Therapeutics 987:. Vatiquinone is a 871:Society and culture 845:Nikolaus Friedreich 831:Nikolaus Friedreich 598:early-onset ataxias 543:absence of reflexes 515:iron-sulfur protein 362:vibratory sensation 331:atrial fibrillation 299:atrial fibrillation 27:Friedreich's ataxia 5494:Fragile X syndrome 5029:Pseudobulbar palsy 4767:Status epilepticus 4718:Multiple sclerosis 4555:Myoclonic epilepsy 4418:movement disorders 4364:Acute disseminated 4306:Viral encephalitis 4170:External resources 4009:10.1038/gt.2016.61 3869:Movement Disorders 3426:Radiation Research 3278:The New York Times 3192:(4 Suppl): 506–9. 3135:10.1007/BF01879049 3096:10.1007/BF01938516 3061:10.1007/BF01878006 3026:10.1007/BF01930976 2958:(Suppl 1): 11–20. 1982:10.1093/hmg/ddu408 1486:10.1042/NS20180060 1473:Neuronal Signaling 1183:10.1093/bmb/ldx034 1076:drug repositioning 1052:multiple sclerosis 1021:, particularly in 884: 833: 752:may be prescribed 636: 402: 311:conduction defects 269:Classical symptoms 5571: 5570: 5531: 5530: 5485:Non-polyglutamine 5392: 5391: 5302:No primary system 5167: 5166: 5163: 5162: 5159: 5158: 4963: 4962: 4868: 4867: 4807:Template:Headache 4773:Template:Epilepsy 4694: 4693: 4668:Vascular dementia 4511:Status dystonicus 4384: 4383: 4359:Encephalomyelitis 4237: 4236: 4217:Friedreich Ataxia 3881:10.1002/mds.27604 3809:Neuropharmacology 3447:10.1667/RR13578.1 3274:"The Cake Eaters" 3170:, 19 January 2017 2965:10.1111/jnc.12215 2668:978-3-319-46062-8 2611:10.2217/nmt.15.73 2238:"FDRA Guidelines" 2212:NIH Rare diseases 1763:10.1002/ana.24595 1479:(4): NS20180060. 1407:10.1111/jnc.12317 1283:(10): e917–e930. 1048:Dimethyl fumarate 989:para-benzoquinone 919:Mount Kilimanjaro 881:recumbent bicycle 774:equinus deformity 710:assistive devices 555:electrocardiogram 488:peripheral nerves 376:Early-onset cases 209: 208: 155:Diagnostic method 21:Medical condition 5638: 5588: 5587: 5586: 5579: 5443: 5442: 5419: 5412: 5405: 5396: 5395: 5319:Pearson syndrome 5194: 5187: 5180: 5171: 5170: 4981: 4980: 4972: 4971: 4930:Brain herniation 4741: 4740: 4581:Intention tremor 4576:Essential tremor 4441:Postencephalitic 4409: 4408: 4400: 4399: 4289: 4288: 4270:Diseases of the 4264: 4257: 4250: 4241: 4240: 4086: 4085: 4062: 4061: 4059: 4057: 4052:on 21 April 2019 4048:. Archived from 4037: 4031: 4030: 4020: 3988: 3982: 3981: 3979: 3977: 3971: 3965:. Archived from 3964: 3956: 3950: 3949: 3939: 3922:(8): 2007–2017. 3907: 3901: 3900: 3864: 3858: 3857: 3855: 3847: 3841: 3840: 3803: 3797: 3796: 3786: 3776: 3744: 3738: 3737: 3709: 3703: 3702: 3692: 3668: 3662: 3661: 3659: 3657: 3643: 3637: 3636: 3634: 3632: 3627:. 5 October 2017 3617: 3611: 3610: 3600: 3589:10.1002/acn3.660 3568: 3562: 3561: 3559: 3557: 3548:. Archived from 3538: 3532: 3531: 3524: 3518: 3516: 3506: 3474: 3468: 3467: 3449: 3417: 3411: 3410: 3408: 3406: 3387: 3381: 3380: 3378: 3376: 3357: 3351: 3350: 3348: 3346: 3337:. 27 July 2016. 3327: 3321: 3320: 3318: 3316: 3295: 3289: 3288: 3286: 3284: 3269: 3263: 3262: 3229:(5254): 1423–7. 3218: 3212: 3211: 3201: 3177: 3171: 3153: 3147: 3146: 3114: 3108: 3107: 3079: 3073: 3072: 3055:(5–6): 433–459. 3044: 3038: 3037: 3020:(3–4): 391–419. 3009: 3003: 2992: 2986: 2985: 2967: 2943: 2937: 2936: 2916: 2910: 2909: 2899: 2875: 2869: 2868: 2866: 2864: 2858: 2843: 2817: 2808: 2802: 2801: 2764: 2758: 2757: 2755: 2731: 2722: 2721: 2711: 2679: 2673: 2672: 2646: 2633: 2632: 2622: 2590: 2584: 2583: 2581: 2579: 2561: 2553: 2547: 2545: 2543: 2541: 2526:"Skyclarys EPAR" 2522: 2516: 2515: 2479: 2473: 2472: 2470: 2468: 2420: 2414: 2413: 2411: 2409: 2390: 2384: 2378: 2377: 2373: 2371: 2369: 2346: 2335: 2334: 2332: 2330: 2311: 2300: 2299: 2289: 2279: 2255: 2249: 2248: 2246: 2244: 2234: 2228: 2227: 2225: 2223: 2204: 2198: 2192: 2191: 2187: 2185: 2183: 2168: 2157: 2156: 2146: 2114: 2108: 2107: 2097: 2087: 2063: 2057: 2056: 2046: 2036: 2013: 2004: 2003: 1993: 1961: 1952: 1951: 1941: 1909: 1903: 1902: 1892: 1882: 1858: 1845: 1844: 1826: 1802: 1783: 1782: 1746: 1740: 1739: 1729: 1718:10.1002/acn3.225 1697: 1691: 1690: 1654: 1645: 1644: 1634: 1624: 1600: 1591: 1590: 1580: 1556: 1550: 1549: 1539: 1515: 1509: 1508: 1498: 1488: 1464: 1458: 1457: 1429: 1420: 1419: 1409: 1385: 1376: 1375: 1373: 1371: 1356: 1335: 1334: 1332: 1330: 1315: 1309: 1308: 1274: 1265: 1254: 1253: 1243: 1232:10.1002/acn3.439 1211: 1205: 1204: 1194: 1162: 991:and targets the 985:PTC Therapeutics 569:for scoliosis. 567:X-ray radiograph 340:effects such as 329:, most commonly 327:tachyarrhythmias 324:supraventricular 44: 24: 23: 5646: 5645: 5641: 5640: 5639: 5637: 5636: 5635: 5596: 5595: 5594: 5584: 5582: 5574: 5572: 5567: 5554:Pentanucleotide 5549: 5536:Tetranucleotide 5527: 5479: 5465:Kennedy disease 5432: 5423: 5393: 5388: 5376: 5323: 5297: 5255: 5226: 5203: 5198: 5168: 5155: 5081:Congenital DSMA 5002: 4959: 4918: 4864: 4852:Sleep disorders 4840: 4817:Cerebrovascular 4811: 4777: 4734: 4728: 4690: 4672: 4597: 4543:Choreoathetosis 4416: 4393: 4380: 4344: 4278: 4268: 4238: 4233: 4232: 4195:article/1150420 4165: 4164: 4097: 4071: 4066: 4065: 4055: 4053: 4038: 4034: 4003:(12): 846–856. 3989: 3985: 3975: 3973: 3972:on 11 July 2019 3969: 3962: 3958: 3957: 3953: 3908: 3904: 3865: 3861: 3853: 3849: 3848: 3844: 3804: 3800: 3759:(6): e0217776. 3745: 3741: 3710: 3706: 3669: 3665: 3655: 3653: 3645: 3644: 3640: 3630: 3628: 3619: 3618: 3614: 3569: 3565: 3555: 3553: 3552:on 7 March 2020 3540: 3539: 3535: 3526: 3525: 3521: 3489:(13): 1481–93. 3475: 3471: 3418: 3414: 3404: 3402: 3389: 3388: 3384: 3374: 3372: 3359: 3358: 3354: 3344: 3342: 3329: 3328: 3324: 3314: 3312: 3307:. 30 May 2015. 3297: 3296: 3292: 3282: 3280: 3270: 3266: 3219: 3215: 3178: 3174: 3164:Wayback Machine 3154: 3150: 3115: 3111: 3080: 3076: 3045: 3041: 3010: 3006: 2993: 2989: 2944: 2940: 2927:(12): 1279–84. 2917: 2913: 2890:(16): 1169–75. 2876: 2872: 2862: 2860: 2856: 2815: 2809: 2805: 2765: 2761: 2732: 2725: 2680: 2676: 2669: 2647: 2636: 2591: 2587: 2577: 2575: 2559: 2555: 2554: 2550: 2539: 2537: 2524: 2523: 2519: 2480: 2476: 2466: 2464: 2421: 2417: 2407: 2405: 2392: 2391: 2387: 2375: 2367: 2365: 2348: 2347: 2338: 2328: 2326: 2321:. 12 May 2023. 2313: 2312: 2303: 2256: 2252: 2242: 2240: 2236: 2235: 2231: 2221: 2219: 2206: 2205: 2201: 2189: 2181: 2179: 2170: 2169: 2160: 2115: 2111: 2064: 2060: 2015: 2014: 2007: 1976:(25): 6848–62. 1962: 1955: 1910: 1906: 1859: 1848: 1803: 1786: 1747: 1743: 1698: 1694: 1655: 1648: 1603:Bürk K (2017). 1601: 1594: 1557: 1553: 1530:(16): 1169–75. 1516: 1512: 1465: 1461: 1430: 1423: 1386: 1379: 1369: 1367: 1358: 1357: 1338: 1328: 1326: 1317: 1316: 1312: 1272: 1266: 1257: 1212: 1208: 1163: 1144: 1139: 1085: 1061: 1044: 1019:lipid membranes 980: 949: 893:Kristen Stewart 888:The Cake Eaters 873: 825: 801: 786: 776:. An automated 770:Achilles tendon 766: 722: 685: 672: 667: 666: 628: 620: 615: 606: 539: 511: 480: 478:Pathophysiology 433:heterochromatin 394: 378: 348:eye movements, 319: 271: 251: 240:(FDA) approved 211: 65: 22: 17: 12: 11: 5: 5644: 5634: 5633: 5628: 5623: 5618: 5613: 5608: 5593: 5592: 5569: 5568: 5566: 5565: 5557: 5555: 5551: 5550: 5548: 5547: 5539: 5537: 5533: 5532: 5529: 5528: 5526: 5525: 5518: 5511: 5504: 5497: 5489: 5487: 5481: 5480: 5478: 5477: 5467: 5462: 5457: 5451: 5449: 5440: 5434: 5433: 5422: 5421: 5414: 5407: 5399: 5390: 5389: 5381: 5378: 5377: 5375: 5374: 5373: 5372: 5360: 5359: 5358: 5356:HUPRA syndrome 5346: 5345: 5344: 5331: 5329: 5325: 5324: 5322: 5321: 5316: 5311: 5305: 5303: 5299: 5298: 5296: 5295: 5290: 5289: 5288: 5283: 5271: 5265: 5263: 5257: 5256: 5254: 5253: 5248: 5243: 5237: 5235: 5233:nervous system 5228: 5227: 5225: 5224: 5219: 5213: 5211: 5205: 5204: 5197: 5196: 5189: 5182: 5174: 5165: 5164: 5161: 5160: 5157: 5156: 5154: 5153: 5152: 5151: 5140: 5139: 5138: 5137: 5136: 5135: 5130: 5120: 5115: 5114: 5113: 5108: 5103: 5102: 5101: 5096: 5091: 5083: 5078: 5073: 5068: 5063: 5053: 5039: 5038: 5037: 5036: 5031: 5026: 5012: 5010: 5004: 5003: 5001: 5000: 4995: 4989: 4987: 4978: 4969: 4965: 4964: 4961: 4960: 4958: 4957: 4952: 4947: 4942: 4937: 4932: 4926: 4924: 4920: 4919: 4917: 4916: 4911: 4909:Cerebral edema 4906: 4905: 4904: 4899: 4894: 4889: 4878: 4876: 4870: 4869: 4866: 4865: 4863: 4862: 4861: 4860: 4858:Template:Sleep 4848: 4846: 4842: 4841: 4839: 4838: 4832: 4827: 4821: 4819: 4813: 4812: 4810: 4809: 4803: 4798: 4793: 4787: 4785: 4779: 4778: 4776: 4775: 4769: 4764: 4759: 4753: 4751: 4738: 4730: 4729: 4727: 4726: 4720: 4715: 4710: 4704: 4702: 4696: 4695: 4692: 4691: 4689: 4688: 4686:Leigh syndrome 4682: 4680: 4674: 4673: 4671: 4670: 4659: 4658: 4653: 4648: 4647: 4646: 4632: 4631: 4630: 4625: 4624: 4623: 4607: 4605: 4599: 4598: 4596: 4595: 4590: 4585: 4584: 4583: 4578: 4567: 4566: 4565: 4564: 4559: 4558: 4557: 4547: 4546: 4545: 4535: 4530: 4529: 4528: 4523: 4518: 4513: 4497: 4496: 4495: 4494: 4489: 4484: 4479: 4474: 4473: 4472: 4462: 4461: 4460: 4450: 4449: 4448: 4443: 4438: 4422: 4420: 4413:Extrapyramidal 4406: 4397: 4395:encephalopathy 4386: 4385: 4382: 4381: 4379: 4378: 4373: 4368: 4367: 4366: 4355: 4353: 4346: 4345: 4343: 4342: 4341: 4340: 4330: 4325: 4324: 4323: 4318: 4313: 4308: 4297: 4295: 4286: 4280: 4279: 4272:nervous system 4267: 4266: 4259: 4252: 4244: 4235: 4234: 4231: 4230: 4219: 4208: 4197: 4186: 4174: 4173: 4171: 4167: 4166: 4163: 4162: 4151: 4140: 4129: 4114: 4098: 4093: 4092: 4090: 4089:Classification 4083: 4082: 4077: 4070: 4069:External links 4067: 4064: 4063: 4032: 3983: 3951: 3902: 3875:(3): 323–334. 3859: 3842: 3798: 3739: 3704: 3663: 3638: 3612: 3563: 3546:www.curefa.org 3533: 3519: 3469: 3412: 3382: 3352: 3322: 3304:CBS Sacramento 3290: 3264: 3213: 3172: 3148: 3129:(2): 145–245. 3109: 3074: 3039: 3004: 2987: 2938: 2911: 2870: 2826:(3): 230–238. 2803: 2776:(3): 459–463. 2759: 2723: 2694:(5): 701–714. 2688:The Cerebellum 2674: 2667: 2634: 2585: 2548: 2517: 2490:(2): 775–777. 2474: 2435:(8): 725–729. 2415: 2385: 2336: 2301: 2250: 2229: 2199: 2158: 2129:(9): 1146–51. 2109: 2058: 2005: 1953: 1904: 1846: 1784: 1741: 1692: 1646: 1592: 1551: 1510: 1459: 1421: 1377: 1336: 1310: 1255: 1226:(9): 622–631. 1206: 1141: 1140: 1138: 1135: 1134: 1133: 1123: 1113: 1098: 1092: 1084: 1081: 1080: 1079: 1069: 1066:erythropoietin 1060: 1057: 1056: 1055: 1043: 1040: 1039: 1038: 1000: 979: 976: 948: 945: 872: 869: 824: 821: 809:haplogroup R1b 800: 797: 785: 782: 765: 762: 726:ACE inhibitors 721: 718: 714:standing frame 684: 681: 671: 670:Rehabilitation 668: 629: 621: 619: 616: 614: 611: 605: 602: 588:, ataxia with 559:echocardiogram 547:electromyogram 538: 535: 510: 507: 479: 476: 471:point mutation 463:point mutation 393: 390: 377: 374: 354:truncal ataxia 318: 317:Other symptoms 315: 289:, symmetrical 270: 267: 250: 247: 207: 206: 203: 199: 198: 195: 191: 190: 187: 181: 180: 175: 169: 168: 165: 161: 160: 157: 151: 150: 147: 141: 140: 133: 129: 128: 125: 121: 120: 117: 113: 112: 102:Cardiomyopathy 99: 93: 92: 89: 83: 82: 73: 67: 66: 64: 63: 59: 57: 53: 52: 46: 45: 37: 36: 33: 29: 28: 20: 15: 9: 6: 4: 3: 2: 5643: 5632: 5629: 5627: 5626:Rare diseases 5624: 5622: 5619: 5617: 5614: 5612: 5609: 5607: 5604: 5603: 5601: 5591: 5581: 5580: 5577: 5563: 5559: 5558: 5556: 5552: 5545: 5541: 5540: 5538: 5534: 5523: 5519: 5516: 5512: 5509: 5505: 5502: 5498: 5495: 5491: 5490: 5488: 5486: 5482: 5475: 5471: 5468: 5466: 5463: 5461: 5458: 5456: 5453: 5452: 5450: 5448: 5444: 5441: 5439: 5438:Trinucleotide 5435: 5431: 5427: 5420: 5415: 5413: 5408: 5406: 5401: 5400: 5397: 5387: 5386: 5379: 5371: 5368: 5367: 5366: 5365: 5361: 5357: 5354: 5353: 5352: 5351: 5347: 5343: 5340: 5339: 5338: 5337: 5333: 5332: 5330: 5326: 5320: 5317: 5315: 5312: 5310: 5307: 5306: 5304: 5300: 5294: 5291: 5287: 5284: 5282: 5279: 5278: 5277: 5276: 5272: 5270: 5267: 5266: 5264: 5262: 5258: 5252: 5249: 5247: 5244: 5242: 5241:Leigh disease 5239: 5238: 5236: 5234: 5229: 5223: 5220: 5218: 5215: 5214: 5212: 5210: 5206: 5202: 5195: 5190: 5188: 5183: 5181: 5176: 5175: 5172: 5150: 5147: 5146: 5145: 5142: 5141: 5134: 5131: 5129: 5126: 5125: 5124: 5121: 5119: 5116: 5112: 5109: 5107: 5104: 5100: 5097: 5095: 5092: 5090: 5087: 5086: 5084: 5082: 5079: 5077: 5074: 5072: 5069: 5067: 5064: 5062: 5059: 5058: 5057: 5054: 5052: 5049: 5048: 5047: 5045: 5041: 5040: 5035: 5032: 5030: 5027: 5025: 5022: 5021: 5020: 5018: 5014: 5013: 5011: 5009: 5005: 4999: 4996: 4994: 4991: 4990: 4988: 4986: 4982: 4979: 4977: 4973: 4970: 4966: 4956: 4953: 4951: 4948: 4946: 4943: 4941: 4938: 4936: 4935:Reye syndrome 4933: 4931: 4928: 4927: 4925: 4921: 4915: 4912: 4910: 4907: 4903: 4900: 4898: 4895: 4893: 4890: 4888: 4887:Hydrocephalus 4885: 4884: 4883: 4880: 4879: 4877: 4875: 4871: 4859: 4855: 4854: 4853: 4850: 4849: 4847: 4843: 4837: 4833: 4831: 4828: 4826: 4823: 4822: 4820: 4818: 4814: 4808: 4804: 4802: 4799: 4797: 4794: 4792: 4789: 4788: 4786: 4784: 4780: 4774: 4770: 4768: 4765: 4763: 4760: 4758: 4755: 4754: 4752: 4750: 4746: 4742: 4739: 4737: 4731: 4725: 4721: 4719: 4716: 4714: 4711: 4709: 4706: 4705: 4703: 4701: 4700:Demyelinating 4697: 4687: 4684: 4683: 4681: 4679: 4675: 4669: 4666: 4665: 4664: 4663: 4657: 4654: 4652: 4649: 4645: 4642: 4641: 4640: 4636: 4633: 4629: 4626: 4622: 4619: 4618: 4617: 4614: 4613: 4612: 4609: 4608: 4606: 4604: 4600: 4594: 4591: 4589: 4588:Restless legs 4586: 4582: 4579: 4577: 4574: 4573: 4572: 4569: 4568: 4563: 4560: 4556: 4553: 4552: 4551: 4548: 4544: 4541: 4540: 4539: 4536: 4534: 4531: 4527: 4526:Blepharospasm 4524: 4522: 4519: 4517: 4514: 4512: 4509: 4508: 4507: 4504: 4503: 4502: 4499: 4498: 4493: 4490: 4488: 4485: 4483: 4482:Hemiballismus 4480: 4478: 4475: 4471: 4468: 4467: 4466: 4463: 4459: 4456: 4455: 4454: 4451: 4447: 4444: 4442: 4439: 4437: 4434: 4433: 4432: 4429: 4428: 4427: 4424: 4423: 4421: 4419: 4414: 4410: 4407: 4405: 4401: 4398: 4396: 4391: 4387: 4377: 4374: 4372: 4369: 4365: 4362: 4361: 4360: 4357: 4356: 4354: 4352: 4347: 4339: 4336: 4335: 4334: 4333:Brain abscess 4331: 4329: 4326: 4322: 4319: 4317: 4314: 4312: 4309: 4307: 4304: 4303: 4302: 4299: 4298: 4296: 4294: 4290: 4287: 4285: 4281: 4277: 4273: 4265: 4260: 4258: 4253: 4251: 4246: 4245: 4242: 4229: 4225: 4224: 4220: 4218: 4214: 4213: 4209: 4207: 4203: 4202: 4198: 4196: 4192: 4191: 4187: 4185: 4181: 4180: 4176: 4175: 4172: 4168: 4161: 4157: 4156: 4152: 4150: 4146: 4145: 4141: 4139: 4135: 4134: 4130: 4128: 4124: 4123: 4119: 4115: 4113: 4109: 4108: 4104: 4100: 4099: 4096: 4091: 4087: 4081: 4078: 4076: 4073: 4072: 4051: 4047: 4043: 4036: 4028: 4024: 4019: 4014: 4010: 4006: 4002: 3998: 3994: 3987: 3968: 3961: 3955: 3947: 3943: 3938: 3933: 3929: 3925: 3921: 3917: 3913: 3906: 3898: 3894: 3890: 3886: 3882: 3878: 3874: 3870: 3863: 3852: 3846: 3838: 3834: 3830: 3826: 3822: 3818: 3814: 3810: 3802: 3794: 3790: 3785: 3780: 3775: 3770: 3766: 3762: 3758: 3754: 3750: 3743: 3735: 3731: 3727: 3723: 3719: 3715: 3708: 3700: 3696: 3691: 3686: 3683:(1): 91–102. 3682: 3678: 3674: 3667: 3652: 3648: 3642: 3626: 3622: 3616: 3608: 3604: 3599: 3594: 3590: 3586: 3582: 3578: 3574: 3567: 3551: 3547: 3543: 3537: 3529: 3523: 3514: 3510: 3505: 3500: 3496: 3492: 3488: 3484: 3480: 3473: 3465: 3461: 3457: 3453: 3448: 3443: 3439: 3435: 3432:(5): 512–20. 3431: 3427: 3423: 3416: 3400: 3396: 3392: 3386: 3370: 3366: 3362: 3356: 3340: 3336: 3332: 3326: 3310: 3306: 3305: 3300: 3294: 3279: 3275: 3268: 3260: 3256: 3252: 3248: 3244: 3240: 3236: 3232: 3228: 3224: 3217: 3209: 3205: 3200: 3195: 3191: 3187: 3183: 3176: 3169: 3165: 3161: 3158: 3152: 3144: 3140: 3136: 3132: 3128: 3125:(in German). 3124: 3120: 3113: 3105: 3101: 3097: 3093: 3090:(1–2): 1–26. 3089: 3086:(in German). 3085: 3078: 3070: 3066: 3062: 3058: 3054: 3051:(in German). 3050: 3043: 3035: 3031: 3027: 3023: 3019: 3016:(in German). 3015: 3008: 3002: 3001:Who Named It? 2998: 2997: 2991: 2983: 2979: 2975: 2971: 2966: 2961: 2957: 2953: 2949: 2942: 2934: 2930: 2926: 2922: 2915: 2907: 2903: 2898: 2893: 2889: 2885: 2881: 2874: 2855: 2851: 2847: 2842: 2837: 2833: 2829: 2825: 2821: 2814: 2807: 2799: 2795: 2791: 2787: 2783: 2779: 2775: 2771: 2763: 2754: 2749: 2745: 2741: 2737: 2730: 2728: 2719: 2715: 2710: 2705: 2701: 2697: 2693: 2689: 2685: 2678: 2670: 2664: 2660: 2656: 2652: 2645: 2643: 2641: 2639: 2630: 2626: 2621: 2616: 2612: 2608: 2604: 2600: 2596: 2589: 2573: 2569: 2567: 2558: 2552: 2535: 2531: 2527: 2521: 2513: 2509: 2505: 2501: 2497: 2493: 2489: 2485: 2478: 2462: 2458: 2454: 2450: 2446: 2442: 2438: 2434: 2430: 2426: 2419: 2403: 2399: 2395: 2389: 2382: 2381:public domain 2363: 2359: 2357: 2351: 2345: 2343: 2341: 2324: 2320: 2316: 2310: 2308: 2306: 2297: 2293: 2288: 2283: 2278: 2273: 2269: 2265: 2261: 2254: 2239: 2233: 2217: 2213: 2209: 2203: 2196: 2195:public domain 2177: 2173: 2167: 2165: 2163: 2154: 2150: 2145: 2140: 2136: 2132: 2128: 2124: 2120: 2113: 2105: 2101: 2096: 2091: 2086: 2081: 2077: 2073: 2069: 2062: 2054: 2050: 2045: 2040: 2035: 2030: 2026: 2022: 2018: 2012: 2010: 2001: 1997: 1992: 1987: 1983: 1979: 1975: 1971: 1967: 1960: 1958: 1949: 1945: 1940: 1935: 1931: 1927: 1923: 1919: 1915: 1908: 1900: 1896: 1891: 1886: 1881: 1876: 1872: 1868: 1864: 1857: 1855: 1853: 1851: 1842: 1838: 1834: 1830: 1825: 1820: 1816: 1812: 1808: 1801: 1799: 1797: 1795: 1793: 1791: 1789: 1780: 1776: 1772: 1768: 1764: 1760: 1757:(3): 485–95. 1756: 1752: 1745: 1737: 1733: 1728: 1723: 1719: 1715: 1712:(8): 831–42. 1711: 1707: 1703: 1696: 1688: 1684: 1680: 1676: 1672: 1668: 1664: 1660: 1653: 1651: 1642: 1638: 1633: 1628: 1623: 1618: 1614: 1610: 1606: 1599: 1597: 1588: 1584: 1579: 1574: 1571:(8): 1261–6. 1570: 1566: 1562: 1555: 1547: 1543: 1538: 1533: 1529: 1525: 1521: 1514: 1506: 1502: 1497: 1492: 1487: 1482: 1478: 1474: 1470: 1463: 1455: 1451: 1447: 1443: 1440:(4): 339–45. 1439: 1435: 1428: 1426: 1417: 1413: 1408: 1403: 1399: 1395: 1391: 1384: 1382: 1365: 1361: 1355: 1353: 1351: 1349: 1347: 1345: 1343: 1341: 1324: 1320: 1314: 1306: 1302: 1298: 1294: 1290: 1286: 1282: 1278: 1271: 1264: 1262: 1260: 1251: 1247: 1242: 1237: 1233: 1229: 1225: 1221: 1217: 1210: 1202: 1198: 1193: 1188: 1184: 1180: 1176: 1172: 1168: 1161: 1159: 1157: 1155: 1153: 1151: 1149: 1147: 1142: 1131: 1127: 1124: 1121: 1117: 1114: 1111: 1107: 1103: 1099: 1096: 1093: 1090: 1087: 1086: 1077: 1073: 1070: 1067: 1063: 1062: 1053: 1049: 1046: 1045: 1036: 1032: 1028: 1024: 1020: 1016: 1012: 1009:. RT001 is a 1008: 1005:is advancing 1004: 1001: 998: 994: 990: 986: 982: 981: 975: 972: 968: 966: 962: 961:Omaveloxolone 958: 954: 944: 941: 940: 939: 933: 931: 927: 922: 920: 915: 913: 908: 906: 902: 901: 896: 894: 890: 889: 882: 877: 868: 865: 863: 858: 856: 852: 850: 846: 842: 838: 829: 820: 818: 814: 810: 805: 796: 794: 789: 781: 779: 775: 771: 761: 759: 755: 751: 747: 746:beta blockers 743: 739: 735: 731: 727: 717: 715: 711: 706: 704: 700: 696: 694: 690: 680: 676: 664: 660: 656: 652: 650: 646: 642: 641:Omaveloxolone 638: 633: 626: 625:Omaveloxolone 618:Omaveloxolone 610: 601: 599: 596:, and other 595: 591: 587: 582: 580: 576: 572: 568: 564: 560: 556: 552: 548: 544: 534: 532: 526: 524: 520: 516: 506: 502: 500: 499:motor neurons 496: 495:myelin sheath 491: 489: 483: 475: 472: 468: 464: 460: 456: 452: 447: 445: 442: 438: 437:transcription 434: 430: 426: 422: 418: 414: 409: 407: 398: 389: 387: 383: 373: 369: 367: 363: 359: 358:stomping gait 355: 351: 347: 343: 339: 334: 332: 328: 325: 314: 312: 308: 304: 300: 296: 295:heart murmurs 292: 288: 284: 280: 276: 266: 264: 260: 256: 246: 243: 242:Omaveloxolone 239: 234: 232: 228: 223: 221: 220: 214: 204: 200: 196: 192: 188: 186: 182: 179: 178:Omaveloxolone 176: 174: 170: 166: 162: 158: 156: 152: 148: 146: 142: 138: 134: 130: 126: 122: 118: 114: 111: 107: 103: 100: 98: 97:Complications 94: 90: 88: 84: 81: 77: 74: 72: 68: 61: 60: 58: 56:Pronunciation 54: 51: 47: 43: 38: 34: 30: 25: 19: 5500: 5430:anticipation 5382: 5362: 5348: 5334: 5273: 5143: 5042: 5015: 4992: 4976:Degenerative 4713:Inflammatory 4660: 4593:Stiff-person 4431:Parkinsonism 4404:Degenerative 4301:Encephalitis 4284:Inflammation 4274:, primarily 4221: 4210: 4199: 4188: 4177: 4153: 4142: 4131: 4116: 4101: 4054:. Retrieved 4050:the original 4045: 4035: 4000: 3997:Gene Therapy 3996: 3986: 3974:. Retrieved 3967:the original 3954: 3919: 3916:Cell Reports 3915: 3905: 3872: 3868: 3862: 3845: 3812: 3808: 3801: 3756: 3752: 3742: 3717: 3713: 3707: 3680: 3676: 3666: 3654:. Retrieved 3650: 3647:"The FA App" 3641: 3629:. Retrieved 3624: 3615: 3583:(1): 15–26. 3580: 3576: 3566: 3554:. Retrieved 3550:the original 3545: 3536: 3522: 3486: 3482: 3472: 3429: 3425: 3415: 3403:. Retrieved 3394: 3385: 3373:. Retrieved 3364: 3355: 3343:. Retrieved 3334: 3325: 3313:. Retrieved 3302: 3293: 3281:. Retrieved 3277: 3267: 3226: 3222: 3216: 3189: 3185: 3175: 3167: 3155:Adam Shatz, 3151: 3126: 3122: 3112: 3087: 3083: 3077: 3052: 3048: 3042: 3017: 3013: 3007: 2994: 2990: 2955: 2951: 2941: 2924: 2920: 2914: 2887: 2883: 2873: 2861:. Retrieved 2823: 2819: 2806: 2773: 2769: 2762: 2746:(2): 81–84. 2743: 2739: 2691: 2687: 2677: 2650: 2605:(1): 49–65. 2602: 2598: 2588: 2576:. Retrieved 2563: 2551: 2538:. Retrieved 2520: 2487: 2483: 2477: 2465:. Retrieved 2432: 2428: 2418: 2406:. Retrieved 2397: 2388: 2366:. Retrieved 2353: 2327:. Retrieved 2318: 2267: 2263: 2253: 2241:. Retrieved 2232: 2220:. Retrieved 2211: 2202: 2180:. Retrieved 2126: 2122: 2112: 2075: 2071: 2061: 2024: 2020: 1973: 1969: 1921: 1917: 1907: 1870: 1866: 1814: 1810: 1754: 1750: 1744: 1709: 1705: 1695: 1665:(2): 200–6. 1662: 1658: 1612: 1608: 1568: 1564: 1554: 1527: 1523: 1513: 1476: 1472: 1462: 1437: 1433: 1397: 1393: 1368:. Retrieved 1327:. Retrieved 1313: 1280: 1276: 1223: 1219: 1209: 1177:(1): 19–30. 1174: 1170: 1095:Nicotinamide 1023:mitochondria 973: 969: 950: 936: 935: 934: 923: 916: 909: 898: 897: 886: 885: 866: 859: 855:Frantz Fanon 853: 834: 806: 802: 799:Epidemiology 790: 787: 767: 742:trandolapril 723: 707: 697: 687:Well-fitted 686: 677: 673: 653: 639: 637: 613:Therapeutics 607: 583: 579:genetic test 540: 527: 512: 503: 492: 484: 481: 448: 441:Heterozygous 412: 410: 405: 403: 379: 370: 335: 320: 277:, including 272: 252: 235: 226: 224: 217: 212: 210: 145:Risk factors 136: 135:Mutation in 18: 5328:Chromosomal 5128:Fazio–Londe 4968:Both/either 4762:Generalised 4621:Early-onset 4616:Alzheimer's 4351:spinal cord 4212:GeneReviews 4179:MedlinePlus 3651:The FA App) 3405:14 December 3375:14 December 3345:14 December 2540:16 December 2467:16 December 2408:28 February 2368:28 February 2329:16 December 1873:(1): 1–12. 1329:10 February 1120:fibroblasts 1089:Resveratrol 997:glutathione 905:Kyle Bryant 900:The Ataxian 841:neurologist 837:pathologist 563:blood tests 303:tachycardia 291:hypertrophy 116:Usual onset 32:Other names 5600:Categories 5261:Myopathies 5231:Primarily 4736:paroxysmal 4708:Autoimmune 4501:Dyskinesia 4371:Meningitis 4349:Brain and 4201:Patient UK 4155:DiseasesDB 2863:29 October 2484:Cerebellum 2270:(1): 415. 1817:: 104606. 1370:23 October 1137:References 1116:Lentivirus 1110:epigenetic 1072:Etravirine 1011:deuterated 862:New France 754:eplerenone 738:lisinopril 693:spasticity 645:medication 429:epigenetic 423:1 of both 338:cerebellar 279:dysarthria 263:dysarthria 173:Medication 5383:see also 4733:Episodic/ 4611:Tauopathy 4562:Akathisia 4550:Myoclonus 4533:Athetosis 4465:Tauopathy 4190:eMedicine 3815:: 34–45. 3720:: 57–67. 3395:GULF NEWS 2578:9 January 2512:258843532 2457:258567442 2182:26 August 2053:220291178 1924:: 34–44. 1841:201839487 1277:Neurology 1035:deuterium 1003:Retrotope 864:in 1634. 784:Prognosis 730:enalapril 537:Diagnosis 531:aconitase 386:pes cavus 382:scoliosis 350:dysmetria 342:nystagmus 257:and limb 194:Frequency 185:Prognosis 164:Treatment 106:scoliosis 76:Neurology 71:Specialty 5590:Medicine 5099:SMALED2B 5094:SMALED2A 4791:Migraine 4783:Headache 4749:epilepsy 4745:Seizures 4603:Dementia 4506:Dystonia 4223:Orphanet 4056:21 April 4027:27518705 3946:28228265 3897:58567610 3889:30624801 3829:28504123 3793:31158268 3753:PLOS ONE 3734:80157839 3699:22115768 3631:27 April 3607:30656180 3556:22 March 3513:23350650 3464:23906747 3456:24720753 3399:Archived 3369:Archived 3339:Archived 3309:Archived 3259:20303793 3160:Archived 3143:42155823 3104:46459932 3069:34515886 3034:42991858 2982:39343424 2974:23859338 2854:Archived 2850:31453516 2798:27569800 2790:28039539 2718:32588316 2629:26782317 2572:Archived 2534:Archived 2504:37219716 2461:Archived 2449:37155124 2402:Archived 2362:Archived 2323:Archived 2319:DailyMed 2296:36371255 2222:17 March 2216:Archived 2176:Archived 2153:22752491 2104:25928624 2000:25113747 1948:31918395 1899:30705738 1833:31494282 1779:26709558 1771:26704351 1736:26339677 1687:24885238 1641:28405347 1505:32714592 1454:21734495 1416:23859346 1364:Archived 1323:Archived 1305:51956258 1297:30097477 1250:28904984 1201:29053830 1031:hydrogen 947:Research 734:ramipril 728:such as 689:orthoses 649:by mouth 575:CT scans 509:Frataxin 459:intronic 455:nonsense 451:missense 444:carriers 392:Genetics 346:saccadic 249:Symptoms 231:frataxin 124:Duration 110:diabetes 87:Symptoms 80:Genetics 50:Frataxin 5560:ATTCT ( 5111:SMA-PME 5106:SMA-PCH 5089:SMALED1 4801:Tension 4796:Cluster 4521:Meige's 4338:Amoebic 4149:D005621 4018:5143368 3976:8 April 3937:5329121 3784:6546270 3761:Bibcode 3598:6331199 3504:3797453 3434:Bibcode 3315:12 June 3251:8596916 3231:Bibcode 3223:Science 3208:6391645 2933:8174325 2906:8815938 2841:6657791 2709:7471180 2620:4768799 2287:9652828 2144:3674546 2095:4280001 2078:: 184. 2044:3873538 1991:4245046 1939:7237328 1890:6354072 1727:4554444 1679:9989622 1632:5383992 1587:9259271 1546:8815938 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Index


Frataxin
Specialty
Neurology
Genetics
Symptoms
Complications
Cardiomyopathy
scoliosis
diabetes
Risk factors
Diagnostic method
Medication
Omaveloxolone
Prognosis
ataxia
frataxin
Food and Drug Administration
Omaveloxolone
gait
ataxia
dysarthria
neurological symptoms
dysarthria
ataxia
enlargement of the heart
hypertrophy
heart murmurs
atrial fibrillation
tachycardia

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